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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 3-49026415-G-C (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=3&pos=49026415&ref=G&alt=C&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "3",
"pos": 49026415,
"ref": "G",
"alt": "C",
"effect": "synonymous_variant",
"transcript": "NM_001410759.1",
"consequences": [
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.915C>G",
"hgvs_p": "p.Val305Val",
"transcript": "NM_000884.3",
"protein_id": "NP_000875.2",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 514,
"cds_start": 915,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000326739.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_000884.3"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.915C>G",
"hgvs_p": "p.Val305Val",
"transcript": "ENST00000326739.9",
"protein_id": "ENSP00000321584.4",
"transcript_support_level": 1,
"aa_start": 305,
"aa_end": null,
"aa_length": 514,
"cds_start": 915,
"cds_end": null,
"cds_length": 1545,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_000884.3",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000326739.9"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 17,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "ENSG00000290315",
"gene_hgnc_id": null,
"hgvs_c": "c.2955C>G",
"hgvs_p": "p.Val985Val",
"transcript": "ENST00000703936.1",
"protein_id": "ENSP00000515567.1",
"transcript_support_level": null,
"aa_start": 985,
"aa_end": null,
"aa_length": 1194,
"cds_start": 2955,
"cds_end": null,
"cds_length": 3585,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000703936.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.1083C>G",
"hgvs_p": "p.Val361Val",
"transcript": "ENST00000937815.1",
"protein_id": "ENSP00000607874.1",
"transcript_support_level": null,
"aa_start": 361,
"aa_end": null,
"aa_length": 570,
"cds_start": 1083,
"cds_end": null,
"cds_length": 1713,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937815.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.915C>G",
"hgvs_p": "p.Val305Val",
"transcript": "NM_001410759.1",
"protein_id": "NP_001397688.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 538,
"cds_start": 915,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410759.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.915C>G",
"hgvs_p": "p.Val305Val",
"transcript": "ENST00000429182.6",
"protein_id": "ENSP00000393525.2",
"transcript_support_level": 5,
"aa_start": 305,
"aa_end": null,
"aa_length": 538,
"cds_start": 915,
"cds_end": null,
"cds_length": 1617,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000429182.6"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.912C>G",
"hgvs_p": "p.Val304Val",
"transcript": "ENST00000968719.1",
"protein_id": "ENSP00000638778.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 537,
"cds_start": 912,
"cds_end": null,
"cds_length": 1614,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968719.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.903C>G",
"hgvs_p": "p.Val301Val",
"transcript": "ENST00000968723.1",
"protein_id": "ENSP00000638782.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 534,
"cds_start": 903,
"cds_end": null,
"cds_length": 1605,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968723.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.891C>G",
"hgvs_p": "p.Val297Val",
"transcript": "ENST00000937818.1",
"protein_id": "ENSP00000607877.1",
"transcript_support_level": null,
"aa_start": 297,
"aa_end": null,
"aa_length": 530,
"cds_start": 891,
"cds_end": null,
"cds_length": 1593,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937818.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.951C>G",
"hgvs_p": "p.Val317Val",
"transcript": "ENST00000937813.1",
"protein_id": "ENSP00000607872.1",
"transcript_support_level": null,
"aa_start": 317,
"aa_end": null,
"aa_length": 526,
"cds_start": 951,
"cds_end": null,
"cds_length": 1581,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937813.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.939C>G",
"hgvs_p": "p.Val313Val",
"transcript": "ENST00000677010.1",
"protein_id": "ENSP00000503089.1",
"transcript_support_level": null,
"aa_start": 313,
"aa_end": null,
"aa_length": 522,
"cds_start": 939,
"cds_end": null,
"cds_length": 1569,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000677010.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.915C>G",
"hgvs_p": "p.Val305Val",
"transcript": "ENST00000881196.1",
"protein_id": "ENSP00000551255.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 520,
"cds_start": 915,
"cds_end": null,
"cds_length": 1563,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881196.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.858C>G",
"hgvs_p": "p.Val286Val",
"transcript": "ENST00000881195.1",
"protein_id": "ENSP00000551254.1",
"transcript_support_level": null,
"aa_start": 286,
"aa_end": null,
"aa_length": 519,
"cds_start": 858,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881195.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 15,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.915C>G",
"hgvs_p": "p.Val305Val",
"transcript": "ENST00000968724.1",
"protein_id": "ENSP00000638783.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 519,
"cds_start": 915,
"cds_end": null,
"cds_length": 1560,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000968724.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.840C>G",
"hgvs_p": "p.Val280Val",
"transcript": "NM_001410760.1",
"protein_id": "NP_001397689.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 513,
"cds_start": 840,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001410760.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 8,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.840C>G",
"hgvs_p": "p.Val280Val",
"transcript": "ENST00000678724.1",
"protein_id": "ENSP00000503874.1",
"transcript_support_level": null,
"aa_start": 280,
"aa_end": null,
"aa_length": 513,
"cds_start": 840,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000678724.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.912C>G",
"hgvs_p": "p.Val304Val",
"transcript": "ENST00000937811.1",
"protein_id": "ENSP00000607870.1",
"transcript_support_level": null,
"aa_start": 304,
"aa_end": null,
"aa_length": 513,
"cds_start": 912,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937811.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.915C>G",
"hgvs_p": "p.Val305Val",
"transcript": "ENST00000937820.1",
"protein_id": "ENSP00000607879.1",
"transcript_support_level": null,
"aa_start": 305,
"aa_end": null,
"aa_length": 513,
"cds_start": 915,
"cds_end": null,
"cds_length": 1542,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937820.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.909C>G",
"hgvs_p": "p.Val303Val",
"transcript": "ENST00000937810.1",
"protein_id": "ENSP00000607869.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 512,
"cds_start": 909,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937810.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.909C>G",
"hgvs_p": "p.Val303Val",
"transcript": "ENST00000937817.1",
"protein_id": "ENSP00000607876.1",
"transcript_support_level": null,
"aa_start": 303,
"aa_end": null,
"aa_length": 512,
"cds_start": 909,
"cds_end": null,
"cds_length": 1539,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000937817.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.903C>G",
"hgvs_p": "p.Val301Val",
"transcript": "ENST00000881190.1",
"protein_id": "ENSP00000551249.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 510,
"cds_start": 903,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000881190.1"
},
{
"aa_ref": "V",
"aa_alt": "V",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 9,
"exon_rank_end": null,
"exon_count": 14,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "IMPDH2",
"gene_hgnc_id": 6053,
"hgvs_c": "c.903C>G",
"hgvs_p": "p.Val301Val",
"transcript": "ENST00000881194.1",
"protein_id": "ENSP00000551253.1",
"transcript_support_level": null,
"aa_start": 301,
"aa_end": null,
"aa_length": 510,
"cds_start": 903,
"cds_end": null,
"cds_length": 1533,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
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{
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{
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],
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"computational_score_selected": 0.2619999945163727,
"computational_prediction_selected": "Benign",
"computational_source_selected": "REVEL",
"splice_score_selected": 0.009999999776482582,
"splice_prediction_selected": "Benign",
"splice_source_selected": "max_spliceai",
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"revel_prediction": "Benign",
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"bayesdelnoaf_score": -0.53,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
"spliceai_max_score": 0.01,
"spliceai_max_prediction": "Benign",
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"acmg_score": -6,
"acmg_classification": "Likely_benign",
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"acmg_by_gene": [
{
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"criteria": [
"BP4",
"BP7",
"BS2"
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"verdict": "Likely_benign",
"transcript": "NM_001410759.1",
"gene_symbol": "IMPDH2",
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"effects": [
"synonymous_variant"
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"inheritance_mode": "AD",
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},
{
"score": 0,
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"criteria": [
"PM2",
"BP4",
"BP7"
],
"verdict": "Uncertain_significance",
"transcript": "ENST00000703936.1",
"gene_symbol": "ENSG00000290315",
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"effects": [
"synonymous_variant"
],
"inheritance_mode": "",
"hgvs_c": "c.2955C>G",
"hgvs_p": "p.Val985Val"
}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}